Variant report

Variant	rs3791715
Chromosome Location	chr2:233429772-233429773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:233429768-233430026	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:233429690-233430106	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:233413906..233415633-chr2:233427350..233429812,2	MCF-7	breast:
2	chr2:233428011..233430747-chr2:233432406..233434151,2	MCF-7	breast:
3	chr2:233413877..233415724-chr2:233428192..233429991,2	K562	blood:

Variant related genes	Relation type
EIF4E2	TF binding region
ENSG00000135930	Chromatin interaction
ENSG00000221944	Chromatin interaction
ENSG00000266620	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16829259	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491758	chr2:232756751-233517015	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv876000	chr2:233303133-233533202	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv876008	chr2:233416612-233505522	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233416200-233440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:233416600-233431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:233416800-233431800	Weak transcription	Stomach Mucosa	stomach
4	chr2:233416800-233432400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:233416800-233433800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:233416800-233434800	Strong transcription	Fetal Muscle Leg	muscle
7	chr2:233416800-233438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:233416800-233440200	Strong transcription	Fetal Thymus	thymus
9	chr2:233416800-233440400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:233416800-233457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:233417000-233431800	Strong transcription	Osteobl	bone
12	chr2:233417000-233432000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:233417200-233432000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr2:233417200-233438800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:233417400-233440000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr2:233417600-233431800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:233417600-233432200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:233417600-233432400	Strong transcription	NH-A	brain
19	chr2:233418600-233442800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:233419000-233440400	Strong transcription	Primary B cells from cord blood	blood
21	chr2:233419200-233432200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:233419200-233438600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:233419200-233451600	Strong transcription	Primary T cells from cord blood	blood
24	chr2:233419400-233431800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:233419400-233435200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:233419400-233443000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:233419800-233436400	Strong transcription	HepG2	liver
28	chr2:233419800-233440400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:233419800-233444000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:233419800-233449400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:233420000-233430000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:233420000-233440000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:233420000-233440200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:233420000-233449200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:233420200-233432000	Strong transcription	Left Ventricle	heart
36	chr2:233420200-233437400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:233420200-233440200	Strong transcription	Thymus	Thymus
38	chr2:233420200-233444600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:233420200-233449400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:233420400-233430400	Strong transcription	Dnd41	blood
41	chr2:233420400-233440800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:233420400-233442000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:233420400-233442800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:233420600-233442400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:233420800-233432000	Strong transcription	HSMM	muscle
46	chr2:233420800-233432800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:233420800-233435000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr2:233420800-233440400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:233420800-233443000	Strong transcription	Placenta	Placenta
50	chr2:233421000-233432800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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